P01116

EV
Gene name
KRAS (KRAS2, RASK2)
Protein name
GTPase KRas
Names
EC 3.6.5.2 , K-Ras 2 , Ki-Ras , c-K-ras , c-Ki-ras [Cleaved into: GTPase KRas, N-terminally processed]
Species
Homo sapiens (Human)
KEGG Pathway
hsa:3845
EC number
3.6.5.2: Acting on GTP; involved in cellular and subcellular movement
Protein Class
RAS, DI-RAS, AND RHEB FAMILY MEMBERS OF SMALL GTPASE SUPERFAMILY (PTHR24070)

Descriptions

Ras proteins are small GTPases that act as signal transducers between cell surface receptors and several intracellular signaling cascades. They contain highly homologous catalytic domains and flexible C-terminal hypervariable regions (HVRs) that differ across Ras isoforms. KRAS is among the most frequently mutated oncogenes in human tumors. The C-terminal HVR of K-Ras4B directly interacts with the active site of the protein. HVR binding interferes with Ras-Raf interaction, modulates binding to phospholipids, and slightly slows down nucleotide exchange.

Autoinhibitory domains (AIDs)

167-188 (C-terminal hypervariable region) EV

Target domain

1-166 (Catalytic domain)

Relief mechanism

Ligand binding

Assay

Structural analysis

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

321 structures for P01116

Entry ID Method Resolution Chain Position Source
1D8D X-ray 200 A P 178-188 PDB
1D8E X-ray 300 A P 178-188 PDB
1KZO X-ray 220 A C 169-173 PDB
1KZP X-ray 210 A C 169-173 PDB
1N4P X-ray 265 A M/N 185-189 PDB
1N4Q X-ray 240 A M/N/O/P/Q/R 185-189 PDB
1N4R X-ray 280 A M/N/O/P/Q/R 185-189 PDB
1N4S X-ray 260 A M/N/O/P/Q/R 185-189 PDB
2MSC NMR - B 1-186 PDB
2MSD NMR - B 1-186 PDB
2MSE NMR - B 1-186 PDB
3GFT X-ray 227 A A/B/C/D/E/F 1-164 PDB
4DSN X-ray 203 A A 2-164 PDB
4DSO X-ray 185 A A 2-164 PDB
4EPR X-ray 200 A A 1-164 PDB
4EPT X-ray 200 A A 1-164 PDB
4EPV X-ray 135 A A 1-164 PDB
4EPW X-ray 170 A A 1-164 PDB
4EPX X-ray 176 A A 1-164 PDB
4EPY X-ray 180 A A 1-164 PDB
4L8G X-ray 152 A A 1-169 PDB
4LDJ X-ray 115 A A 1-164 PDB
4LPK X-ray 150 A A/B 1-169 PDB
4LRW X-ray 215 A A/B 1-169 PDB
4LUC X-ray 129 A A/B 1-169 PDB
4LV6 X-ray 150 A A/B 1-169 PDB
4LYF X-ray 157 A A/B/C 1-169 PDB
4LYH X-ray 137 A A/B/C 1-169 PDB
4LYJ X-ray 193 A A 1-169 PDB
4M1O X-ray 157 A A/B/C 1-169 PDB
4M1S X-ray 155 A A/B/C 1-169 PDB
4M1T X-ray 170 A A/B/C 1-169 PDB
4M1W X-ray 158 A A/B/C 1-169 PDB
4M1Y X-ray 149 A A/B/C 1-169 PDB
4M21 X-ray 194 A A/B/C 1-169 PDB
4M22 X-ray 209 A A/B/C 1-169 PDB
4NMM X-ray 189 A A 1-164 PDB
4OBE X-ray 124 A A/B 1-164 PDB
4PZY X-ray 188 A A/B 1-164 PDB
4PZZ X-ray 140 A A 1-164 PDB
4Q01 X-ray 129 A A/B 1-164 PDB
4Q02 X-ray 170 A A 1-164 PDB
4Q03 X-ray 120 A A 1-164 PDB
4QL3 X-ray 104 A PDB
4TQ9 X-ray 149 A A/B 1-164 PDB
4TQA X-ray 113 A A/B 1-164 PDB
4WA7 X-ray 199 A A 1-164 PDB
5F2E X-ray 140 A A 1-169 PDB
5KYK X-ray 270 A A/B/C 1-167 PDB
5MLA X-ray 219 A A 1-166 PDB
5MLB X-ray 322 A A/C/E/G 1-166 PDB
5O2S X-ray 322 A A/C/E/G 1-166 PDB
5O2T X-ray 219 A A 1-166 PDB
5OCG X-ray 148 A A 2-189 PDB
5OCO X-ray 166 A A/B/C/D/E/F 1-169 PDB
5OCT X-ray 207 A A/B/C/D/E/F 1-169 PDB
5TAR X-ray 190 A A 2-164 PDB
5TB5 X-ray 200 A A/C 2-164 PDB
5UFE X-ray 230 A A 1-166 PDB
5UFQ X-ray 220 A A/B 1-166 PDB
5UK9 X-ray 189 A A/B 1-166 PDB
5UQW X-ray 150 A A/B 1-164 PDB
5US4 X-ray 183 A A/B 1-164 PDB
5USJ X-ray 194 A A/B/C/D/E/F 1-164 PDB
5V6S X-ray 170 A A 1-169 PDB
5V6V X-ray 172 A A/B 1-169 PDB
5V71 X-ray 223 A A/B/C/D/E/F 1-167 PDB
5V9L X-ray 198 A A/B/C 1-167 PDB
5V9O X-ray 156 A A 1-167 PDB
5V9U X-ray 138 A A/B 1-169 PDB
5VBM X-ray 149 A A 1-169 PDB
5VP7 X-ray 170 A A/F 1-169 PDB
5VPI X-ray 162 A A/B 1-169 PDB
5VPY X-ray 200 A A/B 1-169 PDB
5VPZ X-ray 185 A A/B 1-169 PDB
5VQ0 X-ray 230 A A/B 1-169 PDB
5VQ1 X-ray 178 A A/B 1-169 PDB
5VQ2 X-ray 196 A A/B 1-169 PDB
5VQ6 X-ray 199 A A/B 1-169 PDB
5VQ8 X-ray 230 A A/B 1-169 PDB
5W22 X-ray 176 A A/B 1-169 PDB
5WHA X-ray 204 A A/D/G/J 1-166 PDB
5WHB X-ray 218 A A/D/G/J 1-166 PDB
5WHD X-ray 164 A A/B/C/D 1-166 PDB
5WHE X-ray 191 A A/D/G/J 1-166 PDB
5WLB X-ray 172 A A/D 1-166 PDB
5WPM X-ray 172 A A 1-166 PDB
5XCO X-ray 125 A A 1-169 PDB
5YXZ X-ray 170 A A 1-169 PDB
5YY1 X-ray 169 A A 1-169 PDB
6ARK X-ray 175 A A 1-169 PDB
6ASA X-ray 254 A A 1-167 PDB
6ASE X-ray 155 A A 1-169 PDB
6B0V X-ray 129 A A/B 1-169 PDB
6B0Y X-ray 143 A A/B 1-169 PDB
6BOF X-ray 140 A A/B 2-169 PDB
6BP1 X-ray 200 A A 1-169 PDB
6CC9 NMR - B 1-186 PDB
6CCH NMR - B 1-186 PDB
6CCX NMR - B 1-186 PDB
6CU6 X-ray 150 A A/B/C 1-169 PDB
6E6F X-ray 340 A A/B 1-166 PDB
6E6G X-ray 193 A A 1-166 PDB
6EPL X-ray 255 A R 1-169 PDB
6EPM X-ray 250 A R 1-169 PDB
6EPN X-ray 250 A R 1-169 PDB
6EPO X-ray 240 A R 1-169 PDB
6EPP X-ray 240 A R 1-169 PDB
6F76 X-ray 220 A A/B/C/D/E/F 1-169 PDB
6FA1 X-ray 197 A PDB
6FA2 X-ray 260 A A/B/C/D/E/F 1-167 PDB
6FA3 X-ray 182 A A/B/C/D/E/F 1-167 PDB
6FA4 X-ray 202 A A/B/C/D/E/F 1-169 PDB
6GJ5 X-ray 150 A A/B 1-169 PDB
6GJ6 X-ray 176 A A 1-169 PDB
6GJ7 X-ray 167 A A 1-169 PDB
6GJ8 X-ray 165 A A 1-167 PDB
6GOD X-ray 171 A A 2-173 PDB
6GOE X-ray 160 A A 2-169 PDB
6GOF X-ray 198 A A 2-173 PDB
6GOG X-ray 205 A A/B/C/D/E/F 1-169 PDB
6GOM X-ray 163 A A/B/C/D/E/F 1-167 PDB
6GQT X-ray 169 A A/B/C/D/E/F 1-167 PDB
6GQW X-ray 280 A A/B/C/D/E/F 1-167 PDB
6GQX X-ray 220 A A/B/C/D/E/F 1-167 PDB
6GQY X-ray 275 A A/B/C/D/E/F 1-167 PDB
6H46 X-ray 222 A A 1-166 PDB
6H47 X-ray 170 A A 1-166 PDB
6JTN X-ray 190 A C 10-19 PDB
6JTO X-ray 170 A C 10-19 PDB
6JTP X-ray 190 A C 10-18 PDB
6M9W X-ray 150 A A 2-169 PDB
6MBQ X-ray 135 A A 2-166 PDB
6MBT X-ray 145 A A/B 1-169 PDB
6MBU X-ray 145 A A/B 1-169 PDB
6MNX X-ray 220 A A/B/C/D/E/F 1-169 PDB
6MQG X-ray 150 A A 3-169 PDB
6MQN X-ray 160 A A/B/C 1-169 PDB
6MS9 X-ray 149 A A/B/C 1-169 PDB
6MTA X-ray 215 A A/B/C 1-169 PDB
6N2J X-ray 180 A A 1-169 PDB
6N2K X-ray 172 A A 1-169 PDB
6O36 X-ray 200 A A/B/C 1-167 PDB
6O46 X-ray 190 A A/B/C 1-167 PDB
6O4Y X-ray 158 A C 7-14 PDB
6O4Z X-ray 150 A C 5-12 PDB
6O51 X-ray 155 A C 6-14 PDB
6O53 X-ray 140 A C 5-14 PDB
6OB2 X-ray 285 A A/C 1-169 PDB
6OB3 X-ray 210 A A/C 1-169 PDB
6OIM X-ray 165 A A 1-169 PDB
6P0Z X-ray 101 A A/B 2-169 PDB
6P8W X-ray 210 A A/B 1-169 PDB
6P8X X-ray 211 A A/B/C/D 1-169 PDB
6P8Y X-ray 231 A A/B 1-169 PDB
6P8Z X-ray 165 A A/B 1-169 PDB
6PGO X-ray 160 A A/B 1-169 PDB
6PGP X-ray 150 A A/B 1-169 PDB
6PQ3 X-ray 175 A A 1-169 PDB
6PTS NMR - B 1-186 PDB
6PTW NMR - B 1-186 PDB
6QUU X-ray 148 A A/B 1-169 PDB
6QUV X-ray 148 A A/B 1-169 PDB
6QUW X-ray 124 A A/B 1-169 PDB
6QUX X-ray 162 A A/B 1-169 PDB
6T5B X-ray 137 A A 1-169 PDB
6T5U X-ray 172 A B 1-166 PDB
6T5V X-ray 131 A A 1-169 PDB
6TAM X-ray 164 A A 1-169 PDB
6TAN X-ray 116 A A 1-169 PDB
6USX X-ray 227 A A/B 1-169 PDB
6USZ X-ray 203 A A 1-169 PDB
6UT0 X-ray 194 A A/B/C/D 1-169 PDB
6V5L NMR - A 1-169 PDB
6V65 X-ray 276 A C 1-169 PDB
6V6F X-ray 254 A C 1-169 PDB
6VC8 X-ray 250 A A/B/C 1-169 PDB
6VJJ X-ray 140 A A 1-169 PDB
6W4E NMR - B/C 2-186 PDB
6W4F NMR - B/C 2-186 PDB
6WGN X-ray 160 A A/B/C 1-169 PDB
6WS2 X-ray 159 A A/B/C/D 1-169 PDB
6WS4 X-ray 184 A A/B/C/D 1-169 PDB
6XGU X-ray 270 A A 1-169 PDB
6XGV X-ray 211 A A 1-169 PDB
6XHA X-ray 287 A A 1-169 PDB
6XHB X-ray 250 A A 1-169 PDB
6YR8 X-ray 190 A A 1-166 PDB
6YXW X-ray 206 A A/C 1-167 PDB
6ZL5 X-ray 165 A A 1-169 PDB
6ZLI X-ray 173 A A/B 1-169 PDB
7A1W X-ray 176 A A 1-169 PDB
7A1X X-ray 132 A A 1-164 PDB
7A1Y X-ray 200 A A 1-164 PDB
7A47 X-ray 216 A A/C/E 1-169 PDB
7ACA X-ray 157 A A/B/C/D 1-169 PDB
7ACF X-ray 191 A A/B/C/D 1-169 PDB
7ACH X-ray 190 A A/B 1-169 PDB
7ACQ X-ray 186 A A/B/C 1-169 PDB
7C40 X-ray 252 A A 1-167 PDB
7C41 X-ray 228 A A/G/J/M 1-167 PDB
7EW9 X-ray 213 A A/B/C 1-169 PDB
7EWA X-ray 225 A A/B/C 1-169 PDB
7EWB X-ray 199 A A/B/C 1-169 PDB
7EYX X-ray 182 A A 2-169 PDB
7F0W X-ray 139 A A 2-169 PDB
7KFZ EM 347 A A/C 1-169 PDB
7KMR X-ray 151 A A 1-186 PDB
7KYZ NMR - A 1-189 PDB
7LC1 X-ray 235 A A/C 1-169 PDB
7LC2 X-ray 270 A A/B 1-169 PDB
7LGI NMR - A 1-169 PDB
7LZ5 X-ray 150 A A 1-164 PDB
7MDP X-ray 196 A A 1-169 PDB
7MQU NMR - A 1-169 PDB
7NY8 X-ray 180 A A/B 1-167 PDB
7O70 X-ray 118 A A/D 1-169 PDB
7OK3 X-ray 160 A A 1-169 PDB
7OK4 X-ray 170 A A 1-169 PDB
7OO7 X-ray 148 A A/D 1-164 PDB
7Q9U X-ray 224 A AAA/BBB 1-176 PDB
7R0M X-ray 161 A A/B 1-169 PDB
7R0N X-ray 120 A A 1-169 PDB
7R0Q X-ray 195 A A/B 1-169 PDB
7ROV X-ray 132 A A/B 1-189 PDB
7RP2 X-ray 220 A A 1-169 PDB
7RP3 X-ray 200 A A 2-169 PDB
7RP4 X-ray 215 A A/B 2-169 PDB
7RPZ X-ray 130 A A 1-169 PDB
7RSC NMR - A/B 2-186 PDB
7RSE NMR - A/B 2-186 PDB
7RT1 X-ray 127 A A 1-169 PDB
7RT2 X-ray 159 A A 1-169 PDB
7RT3 X-ray 156 A A 1-169 PDB
7RT4 X-ray 210 A A 1-169 PDB
7RT5 X-ray 129 A A 1-169 PDB
7SCW X-ray 198 A A 1-189 PDB
7SCX X-ray 196 A A 1-189 PDB
7STF EM 314 A C 7-16 PDB
7T1F X-ray 220 A A/B/C 1-169 PDB
7T47 X-ray 127 A A 1-164 PDB
7TLE X-ray 199 A A 1-164 PDB
7TLG X-ray 180 A A/B 1-164 PDB
7TLK X-ray 171 A A/B 1-164 PDB
7U8H X-ray 170 A A/B/C/D 1-169 PDB
7VVB X-ray 170 A A 1-189 PDB
7W5R X-ray 387 A A/E/I/M/Q/U 1-167 PDB
7YCC X-ray 179 A A/B/C 1-169 PDB
7YCE X-ray 180 A A 1-169 PDB
7YUZ X-ray 188 A A 2-174 PDB
7YV1 X-ray 145 A A 2-174 PDB
8AFB X-ray 112 A A 1-164 PDB
8AFC X-ray 241 A A/B 1-164 PDB
8AFD X-ray 163 A A/B/C/D 1-164 PDB
8AQ5 X-ray 180 A A 1-169 PDB
8AQ7 X-ray 165 A A/B 1-169 PDB
8AZR X-ray 160 A A 1-164 PDB
8AZV X-ray 105 A A 1-164 PDB
8AZX X-ray 104 A A 1-164 PDB
8AZY X-ray 109 A A 1-169 PDB
8AZZ X-ray 102 A A 1-164 PDB
8B00 X-ray 104 A A 1-164 PDB
8B69 X-ray 307 A B/D 1-169 PDB
8B6I X-ray 170 A A/B 1-169 PDB
8B78 X-ray 111 A A 1-164 PDB
8CX5 X-ray 172 A A/B 1-169 PDB
8DGS EM 430 A E 1-169 PDB
8DGT EM 390 A F 1-169 PDB
8DNI X-ray 150 A A 1-169 PDB
8DNJ X-ray 181 A A/B/C 1-169 PDB
8DNK X-ray 223 A A 1-169 PDB
8DVG X-ray 259 A C 7-16 PDB
8EBZ X-ray 120 A A 1-169 PDB
8ECR X-ray 142 A A/B 1-186 PDB
8EDY X-ray 118 A A 1-186 PDB
8EER X-ray 118 A A 1-186 PDB
8EIE X-ray 141 A A 1-186 PDB
8EPW X-ray 200 A A 1-169 PDB
8EZG X-ray 252 A A 1-167 PDB
8F0M X-ray 244 A A/C 1-169 PDB
8FMJ X-ray 133 A A 1-169 PDB
8FMK X-ray 148 A A 1-169 PDB
8G42 EM 302 A B 1-169 PDB
8G47 EM 319 A B 1-169 PDB
8G4F EM 291 A B 1-166 PDB
8G4H EM 287 A B 1-169 PDB
8G9P X-ray 150 A A/B 1-169 PDB
8G9Q X-ray 140 A A 1-169 PDB
8I5C X-ray 334 A C/H/M/R/W/b/g/l/q/v 8-16 PDB
8I5D X-ray 330 A P 8-16 PDB
8I5E X-ray 220 A P 8-16 PDB
8JGD X-ray 160 A A 1-169 PDB
8JHL X-ray 210 A A 1-169 PDB
8JJS X-ray 153 A A 2-174 PDB
8ONV X-ray 101 A A 1-164 PDB
8QU8 EM 350 A F 1-164 PDB
8QUG X-ray 156 A A 1-164 PDB
8QVU X-ray 224 A A/E 1-189 PDB
8QW6 X-ray 220 A A/E 1-169 PDB
8QW7 X-ray 236 A A/E 1-169 PDB
8STM X-ray 200 A A/B/C/D 1-169 PDB
8STN X-ray 203 A A/B 1-169 PDB
8T71 X-ray 180 A A/B 1-177 PDB
8T72 X-ray 160 A A/B/C 1-177 PDB
8T73 X-ray 150 A A/B 1-169 PDB
8T74 X-ray 165 A A 1-177 PDB
8T75 X-ray 265 A A/C/E/G 1-177 PDB
8TBF X-ray 150 A A/B 1-169 PDB
8TBH X-ray 150 A A/B 1-169 PDB
8TBJ X-ray 145 A A/B 1-169 PDB
8TBK X-ray 126 A A/B 1-169 PDB
8TBL X-ray 188 A A/B 1-169 PDB
8TBM X-ray 157 A A/B 1-169 PDB
8TBN X-ray 146 A A/B 1-169 PDB
8TXE X-ray 135 A A/B 1-169 PDB
8TXG X-ray 150 A A 1-169 PDB
8TXH X-ray 120 A A/B 1-169 PDB
8UN3 X-ray 207 A A/B/C/D 2-167 PDB
8UN4 X-ray 157 A A 2-169 PDB
8UN5 X-ray 131 A A/B 2-167 PDB
AF-P01116-F1 Predicted AlphaFoldDB

685 variants for P01116

Variant ID(s) Position Change Description Diseaes Association Provenance
rs193929331
VAR_065144
RCV000605141
COSM1605975
RCV000364781
RCV003398495
RCV002291547
COSM132886
RCV000013427
CA250291
RCV000149836
 5 K>E liver Variant assessed as Somatic; MODERATE impact. KRAS-related condition Noonan syndrome RASopathy Prostate cancer, hereditary, 1 Noonan syndrome 3 haematopoietic_and_lymphoid_tissue Noonan syndrome 3 (ns3) NS3 [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
COSM506
RCV000623267
rs104894361
RCV000013425
CA16042877
COSM24602
RCV000153427
RCV000413067
RCV000520745
CA234191
VAR_064849
 5 K>N Cardiofaciocutaneous syndrome 2 Noonan syndrome Inborn genetic diseases lung stomach GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein [ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
UniProt
RCV001341946
rs1296330213
 6 L>V RASopathy [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV000013415
CA280165
rs606231202
 10 G>missing Acute myeloid leukemia [ClinVar] Yes ClinGen
ClinVar
dbSNP
VAR_034601 10 G>GG AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate [UniProt] Yes UniProt
rs121913529
COSM1140134
COSM522
RCV000423968
RCV000441134
RCV003398604
VAR_036305
RCV001355876
RCV000038266
RCV000443636
RCV001374446
RCV000984117
CA135567
RCV000434342
 12 G>A thymus upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Multiple myeloma skin central_nervous_system stomach testis Lung adenocarcinoma small_intestine Gastrointestinal stromal tumor (gist) pancreas soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue peritoneum cervix biliary_tract liver KRAS-related condition urinary_tract endometrium Non-small cell lung carcinoma bone gastrointestinal_tract_(site_indeterminate) Gallbladder cancer lung ovary thyroid oesophagus large_intestine prostate Juvenile myelomonocytic leukemia (jmml) Neoplasm of ovary Gastrointestinal stroma tumor breast colorectal cancer samples; somatic mutation [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
RCV000038265
RCV000431049
COSM513
COSM516
VAR_006839
rs121913530
RCV000013406
RCV000119791
RCV000435281
RCV000418063
RCV001355787
COSM1140136
RCV000420450
RCV001292543
CA122528
 12 G>C upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. skin central_nervous_system stomach testis Lung adenocarcinoma small_intestine Endometrial carcinoma kidney pancreas soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix peritoneum biliary_tract liver adrenal_gland urinary_tract endometrium Non-small cell lung carcinoma Lung carcinoma gastrointestinal_tract_(site_indeterminate) Thyroid tumor Gallbladder cancer lung ovary thyroid oesophagus large_intestine prostate Juvenile myelomonocytic leukemia (jmml) Neoplasm of ovary breast lung carcinoma; somatic mutation; also found in metastatic colorectal cancer [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000425250
CA122538
RCV000144969
COSM1135366
RCV000856666
RCV000548006
RCV000585796
RCV002508117
RCV000144970
COSM521
VAR_016026
RCV000029215
RCV001799604
RCV000662266
RCV000150896
RCV000443973
RCV000426369
RCV000272938
RCV000013411
RCV000433573
RCV000150897
rs121913529
RCV001839445
RCV000022799
RCV000029214
RCV003327361
 12 G>D upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. central_nervous_system stomach testis Stomach cancer kidney pancreas RASopathy Neoplasm of the large intestine Endometrial hyperplasia without atypia liver Lung carcinoma gastrointestinal_tract_(site_indeterminate) Thyroid tumor Vascular Tumors Including Pyogenic Granuloma lung eye Primary low grade serous adenocarcinoma of ovary Encephalocraniocutaneous lipomatosis thyroid oesophagus large_intestine Juvenile myelomonocytic leukemia (jmml) Acute myeloid leukemia Capillary malformation-arteriovenous malformation 1 Carcinoma of pancreas skin Autoimmune lymphoproliferative syndrome type 4 small_intestine Cerebral arteriovenous malformation Linear nevus sebaceous syndrome Gastrointestinal stromal tumor (gist) soft_tissue haematopoietic_and_lymphoid_tissue cervix peritoneum biliary_tract endometrium urinary_tract Non-small cell lung carcinoma Epidermal nevus salivary_gland ovary Juvenile myelomonocytic leukemia prostate Neoplasm of ovary breast GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
CA122531
RCV000433472
RCV000441777
rs121913530
COSM1157797
RCV000154401
RCV002513010
RCV000013408
VAR_016027
RCV000013407
RCV001356365
COSM518
RCV000585776
RCV000422773
 12 G>R upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. skin central_nervous_system stomach testis small_intestine Malignant tumor of urinary bladder pancreas RASopathy Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix peritoneum biliary_tract urinary_tract endometrium Non-small cell lung carcinoma bone gastrointestinal_tract_(site_indeterminate) Thyroid tumor lung ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine prostate Juvenile myelomonocytic leukemia (jmml) Neoplasm of ovary breast Adenoid cystic carcinoma lung cancer and bladder cancer; somatic mutation [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000432392
VAR_016028
COSM1152506
RCV000144971
RCV000445081
COSM517
RCV000782191
rs121913530
RCV000038264
RCV000119790
RCV001851824
CA135565
RCV000013414
 12 G>S upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. skin stomach testis small_intestine Stomach cancer pancreas RASopathy soft_tissue penis Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix biliary_tract liver endometrium urinary_tract Non-small cell lung carcinoma gastrointestinal_tract_(site_indeterminate) Thyroid tumor lung ovary thyroid oesophagus large_intestine Juvenile myelomonocytic leukemia prostate Juvenile myelomonocytic leukemia (jmml) Neoplasm of ovary GASC and JMML; also found in lung carcinoma; somatic mutation [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000428010
RCV003455987
RCV000150895
RCV000585801
RCV000157944
COSM520
RCV003322589
RCV000013413
COSM1140133
VAR_006840
CA122540
RCV000154262
RCV000029216
RCV000439101
RCV002291496
rs121913529
RCV000417765
COSM515
RCV000439750
 12 G>V thymus upper_aerodigestive_tract Carcinoma of pancreas Variant assessed as Somatic; MODERATE impact. skin central_nervous_system stomach testis small_intestine Cerebral arteriovenous malformation Linear nevus sebaceous syndrome kidney Gastrointestinal stromal tumor (gist) pancreas soft_tissue Neoplasm of the large intestine pleura haematopoietic_and_lymphoid_tissue genital_tract peritoneum cervix biliary_tract liver urinary_tract endometrium Non-small cell lung carcinoma gastrointestinal_tract_(site_indeterminate) Thyroid tumor lung eye ovary thyroid oesophagus large_intestine autonomic_ganglia Chronic myelogenous leukemia, BCR-ABL1 positive Juvenile myelomonocytic leukemia Lung sarcomatoid carcinoma prostate Juvenile myelomonocytic leukemia (jmml) Neoplasm of ovary breast Acute myeloid leukemia GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts [Cosmic, ClinVar, NCI-TCGA, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
RCV000681039
CA135570
RCV003335071
COSM527
rs121913535
RCV000144972
RCV000038268
COSM1152505
RCV000443868
 13 G>C peritoneum upper_aerodigestive_tract biliary_tract liver Variant assessed as Somatic; MODERATE impact. KRAS-related disorders endometrium Non-small cell lung carcinoma stomach Autoimmune lymphoproliferative syndrome type 4 lung ovary thyroid oesophagus pancreas large_intestine soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV000436657
COSM3384258
VAR_065145
rs121913535
CA122542
RCV000038267
COSM526
RCV000426673
COSM529
RCV000013424
RCV001357137
 13 G>R peritoneum biliary_tract Variant assessed as Somatic; MODERATE impact. Pilocytic astrocytoma urinary_tract Non-small cell lung carcinoma Thyroid tumor lung ovary thyroid pancreas large_intestine Neoplasm of the large intestine pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway [Cosmic, NCI-TCGA, ClinVar, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
NCI-TCGA
dbSNP
gnomAD
RCV001092389
RCV000444192
COSM532
RCV001266168
RCV001526657
RCV000144968
CA122534
RCV001857340
RCV001813183
RCV000144967
RCV000013409
RCV000421576
RCV000427102
VAR_016029
RCV000791297
COSM1140132
RCV000431806
RCV000038269
rs112445441
RCV001839444
 13 G>D upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. OCULOECTODERMAL SYNDROME, SOMATIC central_nervous_system skin Autoimmune lymphoproliferative syndrome type 4 stomach small_intestine Inborn genetic diseases RASopathy pancreas Neoplasm of the large intestine soft_tissue pleura haematopoietic_and_lymphoid_tissue genital_tract peritoneum cervix biliary_tract Noonan syndrome and Noonan-related syndrome liver Breast adenocarcinoma Non-small cell lung carcinoma endometrium urinary_tract bone Thyroid tumor gastrointestinal_tract_(site_indeterminate) lung ovary Encephalocraniocutaneous lipomatosis thyroid oesophagus large_intestine Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) Neoplasm of ovary prostate Acute myeloid leukemia breast GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation [Cosmic, NCI-TCGA, ClinVar, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
NCI-TCGA
dbSNP
gnomAD
rs112445441
CA16602444
RCV000444986
COSM533
RCV000431622
COSM3384257
 13 G>A lung salivary_gland ovary thyroid pancreas large_intestine Non-small cell lung carcinoma endometrium Juvenile myelomonocytic leukemia (jmml) Neoplasm of the large intestine [Cosmic, ClinVar, Ensembl] Yes ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
RCV000429548
COSM1360884
rs121913535
CA16602445
COSM528
RCV000436018
RCV000418407
 13 G>S upper_aerodigestive_tract thymus biliary_tract endometrium Non-small cell lung carcinoma stomach Thyroid tumor lung thyroid pancreas large_intestine soft_tissue prostate Neoplasm of the large intestine pleura haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
COSM530
RCV000038270
RCV001355269
RCV000422238
rs112445441
COSM1152504
COSM534
COSM12721
RCV000439931
CA135573
 13 G>V upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Non-small cell lung carcinoma endometrium stomach small_intestine Thyroid tumor lung ovary pancreas large_intestine Juvenile myelomonocytic leukemia (jmml) Neoplasm of the large intestine soft_tissue [Cosmic, NCI-TCGA, ClinVar, Ensembl] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV001813184
RCV000119792
RCV000521254
VAR_026109
RCV000212499
CA156358
COSM12722
RCV000157945
RCV000844637
RCV001266727
rs104894365
COSM1360883
RCV000013420
 14 V>I Noonan syndrome and Noonan-related syndrome Variant assessed as Somatic; MODERATE impact. Noonan syndrome 3 Noonan syndrome 3 (ns3) Inborn genetic diseases Endometrial carcinoma lung Noonan syndrome RASopathy pancreas large_intestine haematopoietic_and_lymphoid_tissue NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state [ClinVar, NCI-TCGA, Ensembl, Cosmic, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
RCV002264903
rs2135806030
COSM3735050
 18 A>V endometrium Noonan syndrome 3 [Cosmic, ClinVar] Yes cosmic curated
ClinVar
Ensembl
dbSNP
RCV001354208
RCV000433336
RCV000441871
RCV001839449
CA16602501
COSM1212766
VAR_083261
RCV000201922
CA210356
rs121913538
COSM20818
COSM1360876
COSM12703
 19 L>F lung Encephalocraniocutaneous lipomatosis Variant assessed as Somatic; MODERATE impact. OCULOECTODERMAL SYNDROME, SOMATIC large_intestine central_nervous_system haematopoietic_and_lymphoid_tissue Angiosarcoma OES; somatic mutation [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
NCI-TCGA
dbSNP
gnomAD
RCV001420539
COSM1360874
COSM1360875
rs2135806003
 20 T>A Cardiofaciocutaneous syndrome 2 large_intestine [ClinVar, Cosmic] Yes cosmic curated
ClinVar
Ensembl
dbSNP
rs121913236
CA384157372
RCV000654936
VAR_064850
 22 Q>E RASopathy CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
COSM543
CA16602771
RCV000433522
RCV001078206
COSM1360869
rs121913236
 22 Q>K Linear nevus sebaceous syndrome Variant assessed as Somatic; MODERATE impact. pancreas large_intestine central_nervous_system Neoplasm of the large intestine small_intestine haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000506533
RCV001095664
RCV003224112
RCV001253410
CA235299
RCV000150893
RCV000157667
RCV000157946
RCV000576784
VAR_064851
COSM1360868
rs727503110
COSM544
 22 Q>R Hereditary diffuse gastric adenocarcinoma RASopathy Noonan syndrome large_intestine Familial cancer of breast Noonan syndrome 3 Noonan syndrome 3 (ns3) NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction [ClinVar, Cosmic, Ensembl, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
dbSNP
rs794727277
RCV001808080
 26 N>H Noonan syndrome 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000232330
rs104894366
COSM1360859
RCV000150892
RCV000157668
RCV003450654
RCV003152670
CA235301
COSM1169214
VAR_064852
 34 P>L Variant assessed as Somatic; MODERATE impact. Noonan syndrome RASopathy large_intestine Noonan syndrome 3 Noonan syndrome 1 Noonan syndrome 3 (ns3) NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors [NCI-TCGA, ClinVar, Cosmic, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
rs104894366
VAR_064853
 34 P>Q Noonan syndrome 3 (ns3) NS3 [Ensembl, UniProt] Yes Ensembl
UniProt
RCV001851825
RCV000207495
VAR_026110
rs104894366
RCV000043674
RCV000211723
CA280040
RCV000850569
 34 P>R Cardiofaciocutaneous syndrome 2 Variant assessed as Somatic; MODERATE impact. Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 3 (ns3) CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors [ClinVar, NCI-TCGA, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV002444616
RCV000844636
CA273162
RCV000150891
COSM1318028
VAR_064854
COSM1318027
rs727503109
RCV000856729
RCV000260877
 36 I>M Cardiofaciocutaneous syndrome 1 Variant assessed as Somatic; MODERATE impact. RASopathy Noonan syndrome haematopoietic_and_lymphoid_tissue NS3 [ClinVar, NCI-TCGA, Cosmic, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000707607
rs730880470
 50 T>A RASopathy [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000654951
CA384152302
rs1555194041
 52 L>F RASopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1951406889
RCV001261056
 55 I>S Noonan syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs104894364
RCV000157933
RCV000013419
COSM87288
COSM5490513
CA256480
RCV000211785
VAR_026111
RCV000704828
 58 T>I Variant assessed as Somatic; MODERATE impact. RASopathy Noonan syndrome large_intestine Noonan syndrome 3 Noonan syndrome 3 (ns3) haematopoietic_and_lymphoid_tissue NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein [NCI-TCGA, ClinVar, Cosmic, Ensembl, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
rs121913528
RCV000423066
COSM1562187
CA122536
COSM546
VAR_016030
RCV000013410
 59 A>T salivary_gland peritoneum Variant assessed as Somatic; MODERATE impact. large_intestine urinary_tract stomach Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Bladder cancer, transitional cell, somatic GASC; also found in bladder cancer; somatic mutation [Cosmic, NCI-TCGA, ClinVar, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
rs104886029
RCV000119371
CA269881
 59 A>V Variant assessed as Somatic; MODERATE impact. Familial cancer of breast [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV000254661
RCV001267316
CA273416
RCV003313917
RCV000157935
rs104894359
RCV000521390
RCV000844635
VAR_026112
RCV000013416
 60 G>R Cardiofaciocutaneous syndrome 2 Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 3 (ns3) Inborn genetic diseases Cardio-facio-cutaneous syndrome CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002470709
RCV000689097
RCV000157934
RCV000013428
rs104894359
VAR_065146
CA256484
 60 G>S Cardiofaciocutaneous syndrome 2 RASopathy Noonan syndrome 3 Noonan syndrome 3 (ns3) NS3 [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000212500
RCV000150889
RCV000157936
rs727503108
COSM1667041
RCV001850055
CA176493
 60 G>V RASopathy Noonan syndrome large_intestine Non-small cell lung carcinoma [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
rs121913238
RCV000422828
CA16602770
COSM550
 61 Q>E lung Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system urinary_tract Neoplasm of the large intestine [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000440092
RCV001004043
COSM555
RCV000154530
RCV000441804
RCV000420404
RCV002056053
RCV003445113
COSM1135364
CA180922
RCV000424748
RCV000430651
RCV000435442
rs17851045
RCV002408686
RCV000417543
RCV000423952
RCV000433564
RCV000429878
RCV002514970
RCV000423293
RCV000445124
RCV000433108
CA135552
RCV000421965
RCV000444370
RCV000038259
COSM554
VAR_006841
COSM1146992
 61 Q>H Malignant neoplasm of body of uterus Multiple myeloma Hepatocellular carcinoma Lung adenocarcinoma Cerebral arteriovenous malformation Pancreatic adenocarcinoma Chronic lymphatic leukemia Gastric adenocarcinoma Thyroid tumor Squamous cell lung carcinoma Malignant melanoma of skin Variant assessed as Somatic; MODERATE impact. skin stomach small_intestine kidney pancreas RASopathy soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix biliary_tract liver endometrium urinary_tract Non-small cell lung carcinoma lung ovary thyroid large_intestine Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia (jmml) breast Acute myeloid leukemia lung carcinoma [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] Yes ClinGen
cosmic curated
NCI-TCGA Cosmic
ClinVar
Ensembl
NCI-TCGA
dbSNP
UniProt
CA180750
RCV000440889
RCV000423236
COSM1159597
COSM549
RCV000154402
rs121913238
 61 Q>K upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. Non-small cell lung carcinoma urinary_tract skin stomach Thyroid tumor lung kidney thyroid pancreas large_intestine Neoplasm of the large intestine prostate haematopoietic_and_lymphoid_tissue breast [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000202407
COSM1140131
RCV000443593
rs121913240
CA210876
COSM553
RCV000437806
RCV000038258
RCV000984128
 61 Q>L biliary_tract Variant assessed as Somatic; MODERATE impact. Multiple myeloma Non-small cell lung carcinoma urinary_tract endometrium skin stomach small_intestine Thyroid tumor lung salivary_gland kidney thyroid pancreas large_intestine Neoplasm of the large intestine soft_tissue haematopoietic_and_lymphoid_tissue breast Medullary thyroid carcinoma [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
COSM3688142
COSM551
rs121913240
RCV000429766
RCV000419507
CA16602443
 61 Q>P lung cervix upper_aerodigestive_tract thyroid Variant assessed as Somatic; MODERATE impact. large_intestine Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Thyroid tumor [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000438012
RCV000420152
RCV000431260
VAR_036306
RCV001209740
rs121913240
RCV000038257
COSM1158660
COSM552
RCV001813342
CA261702
 61 Q>R genital_tract cervix upper_aerodigestive_tract Noonan syndrome and Noonan-related syndrome Variant assessed as Somatic; MODERATE impact. Non-small cell lung carcinoma central_nervous_system skin stomach Thyroid tumor lung thyroid RASopathy Noonan syndrome pancreas large_intestine Neoplasm of the large intestine prostate haematopoietic_and_lymphoid_tissue a colorectal cancer sample; somatic mutation [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000157931
CA296078
rs730880469
 63 E>missing RASopathy [ClinVar] Yes ClinGen
ClinVar
dbSNP
rs1951405995
COSM5022494
COSM5022495
RCV001267233
 64 Y>N Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes NCI-TCGA Cosmic
ClinVar
Ensembl
dbSNP
rs2141509973
RCV002264904
 64 Y>RAMRDQY Noonan syndrome 3 [ClinVar] Yes ClinVar
dbSNP
rs1951405964
RCV001266427
 64 Y>S Inborn genetic diseases [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000505640
rs1555194026
CA384152083
RCV000680027
 65 S>I RASopathy Noonan syndrome 3 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001526874
rs2141509932
 66 A>DLL Capillary Telangiectasia, Brain [ClinVar] Yes ClinVar
dbSNP
rs1951405901
RCV001266428
 66 A>S Inborn genetic diseases [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001264745
rs1951405809
 68 R>missing Noonan syndrome 3 [ClinVar] Yes ClinVar
dbSNP
rs387907205
CA10576919
RCV000221667
RCV000596230
 71 Y>D Cardio-facio-cutaneous syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs387907205
CA279983
VAR_069784
RCV000024617
 71 Y>H Cardiofaciocutaneous syndrome 2 CFC2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
COSM14207
rs104886028
CA156305
RCV000119372
 72 M>I Sarcoma haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] Yes cosmic curated
Ensembl
ClinGen
ClinVar
dbSNP
CA273592
RCV001315183
RCV000155926
RCV001857536
rs727504662
 72 M>L Noonan syndrome RASopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001261057
rs1951405479
 74 T>I Noonan syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
COSM28672
RCV001194230
rs770020203
RCV001375978
 74 T>P Non-immune hydrops fetalis haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] Yes cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
RCV002544187
rs2141509513
RCV001753293
 84 I>V RASopathy [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA176487
RCV000150887
rs727503106
 97 R>K Non-small cell lung carcinoma [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002023967
rs1264149117
 108 D>E RASopathy [ClinVar] Yes gnomAD
ClinVar
dbSNP
rs763553461
RCV002564240
RCV001508325
 108 D>Y RASopathy [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV002023088
rs1951384675
 111 M>T RASopathy [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000144422
rs202247812
CA270751
 116 N>S Noonan syndrome 1 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
COSM1256061
COSM1562192
CA6486888
RCV000443670
RCV000433195
RCV000425583
RCV001731671
COSM19940
VAR_036307
RCV000435219
RCV000425803
RCV000442858
RCV001200581
COSM28519
rs770248150
CA16602442
RCV000435839
 117 K>N Esophageal carcinoma Encephalocraniocutaneous lipomatosis Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine Multiple myeloma Hepatocellular carcinoma Neoplasm of the large intestine Gastric adenocarcinoma haematopoietic_and_lymphoid_tissue Malignant melanoma of skin colorectal cancer samples; somatic mutation [ClinVar, NCI-TCGA, Cosmic, UniProt] Yes ClinGen
cosmic curated
NCI-TCGA Cosmic
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1951384485
RCV001352126
 118 C>R RASopathy [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001269478
RCV000850568
RCV000999628
CA296084
rs730880471
RCV000157937
 119 D>N Variant assessed as Somatic; MODERATE impact. Noonan syndrome 3 [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs1951383854
RCV001350656
RCV002499701
 130 A>I RASopathy Familial cancer of breast [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV002478474
RCV000349904
RCV001280675
RCV001368828
CA296095
RCV000157950
rs730880473
 130 A>V RASopathy Noonan syndrome Familial cancer of breast [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA6486883
rs757816355
RCV000593127
RCV001868002
 136 S>N RASopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000444020
RCV002259922
RCV001861474
RCV000984134
COSM19905
rs121913527
CA16602441
COSM1140130
 146 A>P lung Variant assessed as Somatic; MODERATE impact. RASopathy large_intestine Multiple myeloma Autoimmune lymphoproliferative syndrome type 4 Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000994878
CA16609691
rs121913527
RCV000473918
 146 A>S RASopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000791298
COSM1165198
RCV001839448
COSM19404
RCV001852208
VAR_036308
RCV000178223
CA245262
RCV000426420
RCV002227934
rs121913527
 146 A>T upper_aerodigestive_tract Encephalocraniocutaneous lipomatosis Variant assessed as Somatic; MODERATE impact. RASopathy OCULOECTODERMAL SYNDROME, SOMATIC large_intestine Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue small_intestine Classic Hodgkin lymphoma OES; somatic mutation; also found in colorectal cancer samples [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
VAR_083262
rs1057519725
RCV000434735
CA16602440
RCV003332167
RCV002524688
COSM1360827
RCV000441300
RCV000791299
RCV000423608
RCV001839452
COSM19900
 146 A>V Malignant tumor of urinary bladder Encephalocraniocutaneous lipomatosis thyroid Variant assessed as Somatic; MODERATE impact. OCULOECTODERMAL SYNDROME, SOMATIC RASopathy large_intestine Non-small cell lung carcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Thyroid tumor OES; somatic mutation [ClinVar, Cosmic, NCI-TCGA, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA279985
VAR_069785
RCV000024618
rs387907206
RCV000520244
 147 K>E Cardiofaciocutaneous syndrome 2 CFC2 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA384151064
RCV000496202
rs1135401776
 147 K>R Noonan syndrome 3 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001789706
rs2141505552
 149 R>* Thyroid cancer, nonmedullary, 1 [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1592798693
RCV001261058
 153 E>A Noonan syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs1592798693
RCV000789016
 153 E>V Noonan syndrome 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000039808
RCV002336141
RCV001811280
RCV000149847
CA138584
rs4362222
 161 R>= RASopathy [ClinVar] Yes ClinGen
ClinVar
dbSNP
rs397517476
RCV003401425
RCV001844160
CA6486858
RCV000586927
 166 Y>H KRAS-related condition [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA16042893
rs1057517885
RCV000509244
RCV000414506
 171 I>T RASopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs200970347
RCV002513559
RCV000587678
RCV000039810
COSM1716927
CA138588
 179 G>S NS Inborn genetic diseases [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA138590
RCV001526812
RCV001719761
RCV000039811
rs373169526
 180 C>* Cardio-facio-cutaneous syndrome [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001329578
rs779951033
 187 I>V Autoimmune lymphoproliferative syndrome type 4 [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
rs755967833
RCV000780368
RCV003413571
 188 I>V KRAS-related condition [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2135806400 2 T>S No Ensembl
rs1951664697 2 T>S No TOPMed
rs2135806390 3 E>D No Ensembl
rs2135806379 5 K>I No Ensembl
rs1296330213 6 L>I No gnomAD
rs2135806364 6 L>P No Ensembl
rs2135806346 7 V>E No Ensembl
rs2135806349 7 V>L No Ensembl
rs2135806349
COSM30620
RCV001355312
 7 V>M ovary [Cosmic] No cosmic curated
ClinVar
Ensembl
dbSNP
rs2135806332
RCV001355366
 8 V>I No ClinVar
Ensembl
dbSNP
rs2135806332 8 V>L No Ensembl
rs2135806320 9 V>A No Ensembl
rs2135806320 9 V>G No Ensembl
COSM1562184
rs1951664416
COSM1562183
 9 V>I large_intestine endometrium [Cosmic] No cosmic curated
Ensembl
rs1951664416 9 V>L No Ensembl
rs2135806313 10 G>* No Ensembl
rs2135806313
COSM1360888
COSM1360887
 10 G>R large_intestine [Cosmic] No cosmic curated
Ensembl
COSM1166616
COSM1166617
 10 G>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2135806301 10 G>A No Ensembl
rs2135806301 10 G>V No Ensembl
COSM1562186
COSM1562185
 11 A>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2135806273 11 A>G No Ensembl
rs1064796748
CA16619504
RCV000485433
 11 A>GP No ClinGen
ClinVar
dbSNP
rs2135806273
COSM511
 11 A>V lung stomach haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
RCV002275493
rs2135806256
 12 G>C No ClinVar
Ensembl
dbSNP
rs2135806127 13 G>DI No Ensembl
COSM5879375
COSM5879376
 13 G>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6022434 13 G>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2135806200
RCV002254480
 13 G>R No ClinVar
dbSNP
rs2135806161
COSM526
COSM529
COSM3384258
 13 G>R lung peritoneum ovary biliary_tract thyroid pancreas large_intestine urinary_tract [Cosmic] No cosmic curated
Ensembl
rs2135806110 14 V>E No Ensembl
COSM249887
rs2135806110
 14 V>G large_intestine [Cosmic] No cosmic curated
Ensembl
rs104894365 14 V>L Noonan syndrome 3 (ns3) [Ensembl] No ExAC
gnomAD
rs1555195579 15 G>A No Ensembl
COSM539
rs1555195579
 15 G>D haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs2135806091 15 G>R No Ensembl
rs2135806091
COSM538
 15 G>S ovary thymus [Cosmic] No cosmic curated
Ensembl
RCV000521534
CA384157440
rs1555195579
 15 G>V No ClinGen
ClinVar
Ensembl
dbSNP
rs2135806070 16 K>N No Ensembl
COSM51382
rs1951663808
 17 S>N salivary_gland [Cosmic] No cosmic curated
TOPMed
rs776785730 17 S>R No ExAC
gnomAD
rs1951663808 17 S>T No TOPMed
COSM2202573
COSM542
 18 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2135806030 18 A>G No Ensembl
rs2135806040 18 A>P No Ensembl
COSM541
rs2135806040
 18 A>T lung [Cosmic] No cosmic curated
Ensembl
rs771188508 19 L>M No ExAC
gnomAD
rs2135805997 20 T>M No Ensembl
COSM938161
COSM1152502
rs2135805997
 20 T>R Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2135806003
COSM87289
 20 T>S haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs2135805986 21 I>L No Ensembl
rs2135805981
COSM4855091
COSM4855090
 21 I>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs121913236
COSM33721
 22 Q>* large_intestine [Cosmic] No cosmic curated
Ensembl
rs1951663491 22 Q>H No gnomAD
RCV000157947
CA296089
rs727503110
 22 Q>L Noonan syndrome 3 (ns3) [Ensembl] No ClinGen
ClinVar
Ensembl
dbSNP
rs730880472 23 L>Q No Ensembl
RCV000157948
COSM303853
COSM2202572
rs730880472
CA296092
 23 L>R Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs2135805957 23 L>V No Ensembl
rs2135805949 24 I>F No Ensembl
COSM1152501
COSM87313
rs2135805942
 24 I>N ovary Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1951663379 25 Q>E No Ensembl
RCV001358141
rs2135805919
 25 Q>R No ClinVar
Ensembl
dbSNP
RCV001357845
rs2135805870
 25 Q>missing No ClinVar
dbSNP
rs1951663379 25 Q>* No Ensembl
rs2135805909 25 Q>H No Ensembl
rs2135805894 26 N>I No Ensembl
rs2135805889 26 N>K No Ensembl
rs794727277
CA241569
RCV000175794
 26 N>Y No ClinGen
ClinVar
Ensembl
dbSNP
rs2135805878 27 H>D No Ensembl
COSM12704
rs2135805862
 27 H>L haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs2135805878 27 H>Y No Ensembl
rs2135805859 29 V>E No Ensembl
rs113623140
COSM1168054
 30 D>E large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs2135805846 30 D>H No Ensembl
TCGA novel
rs2135805846
 30 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2135805846 30 D>Y No Ensembl
rs2135805818
COSM3727814
 31 E>K large_intestine [Cosmic] No cosmic curated
Ensembl
COSM26146
rs2135805818
 31 E>Q thyroid [Cosmic] No cosmic curated
Ensembl
rs2135805795 32 Y>* No Ensembl
rs2135805801 32 Y>D No Ensembl
rs2135805801 32 Y>N No Ensembl
COSM1511785
rs2135805765
COSM1511784
 33 D>E lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2135805778 33 D>H No Ensembl
rs2135805778 33 D>N No Ensembl
rs2135805772 33 D>V No Ensembl
rs2135805778 33 D>Y No Ensembl
rs2135805755 34 P>A No Ensembl
COSM27637
rs2135805755
 34 P>S pancreas [Cosmic] No cosmic curated
Ensembl
rs2135805755 34 P>T No Ensembl
COSM1360857
COSM1360858
rs2135805739
 35 T>A large_intestine [Cosmic] No cosmic curated
Ensembl
rs2135805733 35 T>K No Ensembl
rs2135805733 35 T>R No Ensembl
rs2135805713 36 I>K No Ensembl
rs2135805722 36 I>V No Ensembl
rs2135805691 37 E>D No Ensembl
rs2135805697 37 E>K No Ensembl
rs2135805697 37 E>Q No Ensembl
rs2141510577 38 D>E No Ensembl
rs2141510590 38 D>H No Ensembl
rs2141510590 38 D>N No Ensembl
rs2141510582 38 D>V No Ensembl
rs2141510590 38 D>Y No Ensembl
rs2141510561 39 S>C No Ensembl
rs2141510561 39 S>F No Ensembl
rs2141510572 39 S>T No Ensembl
rs2141510540 40 Y>* No Ensembl
TCGA novel 40 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2141510546 40 Y>H No Ensembl
rs2141510521 41 R>S No Ensembl
rs2141510533 41 R>T No Ensembl
rs2141510517 42 K>N No Ensembl
rs2141510513 43 Q>* No Ensembl
rs2141510513 43 Q>E No Ensembl
rs2141510506 43 Q>L No Ensembl
rs2141510488 44 V>A No Ensembl
rs2141510488 44 V>E No Ensembl
rs2141510488 44 V>G No Ensembl
rs2141510495 44 V>I No Ensembl
rs2141510495 44 V>L No Ensembl
rs2141510470 45 V>E No Ensembl
rs2141510473 45 V>L No Ensembl
rs2141510457 46 I>L No Ensembl
rs904755552 46 I>M No TOPMed
RCV000781489
rs1565885006
 47 D>G No ClinVar
Ensembl
dbSNP
rs2141510444 47 D>H No Ensembl
rs2141510444 47 D>N No Ensembl
rs1565885006 47 D>V No Ensembl
rs2141510444 47 D>Y No Ensembl
rs2141510419 48 G>* No Ensembl
rs1565885000 48 G>A No Ensembl
rs1565885000 48 G>E No Ensembl
rs2141510419 48 G>R No Ensembl
rs1565885000 48 G>V No Ensembl
rs2141510389 49 E>D No Ensembl
COSM1667043
rs2141510396
 49 E>K large_intestine [Cosmic] No cosmic curated
Ensembl
rs2141510396 49 E>Q No Ensembl
RCV001264561
RCV003311975
rs1407509439
 50 T>I No ClinVar
dbSNP
gnomAD
rs730880470 50 T>P No Ensembl
rs1407509439 50 T>S No gnomAD
rs730880470
CA296081
RCV000157932
 50 T>S No ClinGen
ClinVar
Ensembl
dbSNP
rs2141510348 51 C>* No Ensembl
rs2141510355 51 C>F No Ensembl
rs2141510359 51 C>R No Ensembl
rs2141510355 51 C>S No Ensembl
rs2141510355 51 C>Y No Ensembl
rs2141510335 52 L>H No Ensembl
rs1555194041 52 L>V No Ensembl
rs2141510313 53 L>* No Ensembl
rs2141510303 53 L>F No Ensembl
rs2141510317 53 L>M No Ensembl
rs2141510291 54 D>E No Ensembl
rs2141510296 54 D>H No Ensembl
rs2141510296 54 D>N No Ensembl
rs2141510296 54 D>Y No Ensembl
rs2141510288 55 I>F No Ensembl
rs2141510288 55 I>V No Ensembl
rs2141510259 56 L>F No Ensembl
rs2141510248 56 L>H No Ensembl
rs2141510259 56 L>I No Ensembl
rs2141510248 56 L>P No Ensembl
rs2141510259 56 L>V No Ensembl
rs1951406780 57 D>E No TOPMed
gnomAD
rs2141510226 57 D>G No Ensembl
rs2141510230 57 D>H No Ensembl
rs2141510230
COSM1166779
COSM1212769
 57 D>N lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2141510226 57 D>V No Ensembl
rs2141510230 57 D>Y No Ensembl
rs2141509791
RCV002254478
 58 T>missing No ClinVar
dbSNP
rs2141510210 58 T>A No Ensembl
rs104894364 58 T>R Noonan syndrome 3 (ns3) [Ensembl] No Ensembl
rs2141510210 58 T>S No Ensembl
rs121913528 59 A>P No Ensembl
COSM1667040 59 A>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM547
COSM1318029
rs104886029
 59 A>E Variant assessed as Somatic; MODERATE impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs104886029
COSM1135365
COSM28518
 59 A>G kidney Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
gnomAD
rs121913528
CA354836
RCV000207502
COSM1235389
 59 A>S Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs727503108
COSM548
 60 G>A thyroid [Cosmic] No cosmic curated
gnomAD
rs104894359 60 G>C Noonan syndrome 3 (ns3) [Ensembl] No Ensembl
COSM4531523
COSM87290
 60 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs121913238 61 Q>* No Ensembl
rs2141510126 61 Q>K No Ensembl
COSM1158660
rs2141510086
COSM552
 61 Q>R genital_tract lung cervix upper_aerodigestive_tract thyroid pancreas large_intestine skin central_nervous_system prostate stomach haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
TCGA novel 62 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 62 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2141510060 62 E>* No Ensembl
COSM556
rs1407455199
 62 E>D endometrium [Cosmic] No cosmic curated
TOPMed
COSM3459506
rs2141510060
COSM3459505
 62 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2141510060 62 E>Q No Ensembl
rs2141510034 63 E>* No Ensembl
RCV002249488
RCV000788738
RCV000788713
rs1592808357
 63 E>D No ClinVar
Ensembl
dbSNP
COSM1360847
rs2141510034
COSM27159
 63 E>K genital_tract thyroid Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2141510034 63 E>Q No Ensembl
rs2141509990 64 Y>* No Ensembl
rs1951405964 64 Y>C No Ensembl
COSM5989723
rs1951405995
COSM5044325
 64 Y>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1951405964 64 Y>F No Ensembl
rs2141509984 65 S>C No Ensembl
rs1555194026 65 S>N No Ensembl
rs2141509952 65 S>R No Ensembl
rs1555194026 65 S>T No Ensembl
rs2141509937 66 A>G No Ensembl
rs1951405901 66 A>P No Ensembl
rs1951405901 66 A>T No Ensembl
rs2141509937 66 A>V No Ensembl
RCV001533002
rs2141509708
 66 A>missing No ClinVar
dbSNP
rs2141509890 67 M>I No Ensembl
rs2141509906 67 M>K No Ensembl
rs2141509914
COSM329471
 67 M>L haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs2141509906 67 M>R No Ensembl
rs2141509873 68 R>K No Ensembl
COSM183929
COSM5116929
 68 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2141509873 68 R>T No Ensembl
rs2141509883 68 R>W No Ensembl
COSM4940850
COSM4940849
rs2141509873
 68 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2141509837 69 D>E No Ensembl
rs2141509850 69 D>H No Ensembl
rs2141509850 69 D>N No Ensembl
rs2141509846 69 D>V No Ensembl
rs2141509850 69 D>Y No Ensembl
rs2141509824 70 Q>* No Ensembl
rs2141509824 70 Q>E No Ensembl
rs780492744 70 Q>H No ExAC
gnomAD
rs2141509824 70 Q>K No Ensembl
rs2141509796 71 Y>* No Ensembl
rs2141509802 71 Y>F No Ensembl
rs2141509802 71 Y>S No Ensembl
rs2141509775 72 M>K No Ensembl
rs2141509753 73 R>G No Ensembl
rs2141509739 73 R>K No Ensembl
COSM3670115
COSM3670116
rs2141509739
 73 R>M central_nervous_system [Cosmic] No cosmic curated
Ensembl
rs104886027 73 R>S No Ensembl
rs2141509739 73 R>T No Ensembl
rs2141509753 73 R>W No Ensembl
rs770020203 74 T>A No ExAC
gnomAD
rs770020203 74 T>S No ExAC
gnomAD
rs1951405479 74 T>S No Ensembl
rs780974222 75 G>A No ExAC
gnomAD
rs780974222 75 G>E No ExAC
gnomAD
rs2141509701 75 G>R No Ensembl
rs780974222 75 G>V No ExAC
gnomAD
rs2141509675 76 E>* No Ensembl
rs727503107 76 E>D No Ensembl
rs2141509675 76 E>K No Ensembl
rs756890312 77 G>A No ExAC
gnomAD
rs2141509652 77 G>C No Ensembl
rs756890312 77 G>D No ExAC
gnomAD
rs2141509652 77 G>R No Ensembl
rs2141509652
RCV001552357
 77 G>S No ClinVar
Ensembl
dbSNP
rs756890312 77 G>V No ExAC
gnomAD
rs2141509620 78 F>I No Ensembl
rs2141509607 78 F>L No Ensembl
rs2141509620 78 F>L No Ensembl
rs2141509612 78 F>S No Ensembl
rs2141509620 78 F>V No Ensembl
rs2141509594 79 L>F No Ensembl
rs868857258 79 L>H No Ensembl
rs868857258 79 L>P No Ensembl
rs2141509594 79 L>V No Ensembl
rs2141509582 80 C>* No Ensembl
rs2141509564 81 V>A No Ensembl
rs2141509564 81 V>E No Ensembl
rs2141509571 81 V>I No Ensembl
rs2141509571 81 V>L No Ensembl
rs2141509552 82 F>I No Ensembl
rs2141509547 82 F>L No Ensembl
rs2141509524 83 A>D No Ensembl
rs2141509524 83 A>G No Ensembl
rs2141509535 83 A>P No Ensembl
rs2141509535 83 A>S No Ensembl
rs2141509535 83 A>T No Ensembl
rs2141509524 83 A>V No Ensembl
rs2141509504 84 I>K No Ensembl
rs2141509504 84 I>T No Ensembl
rs2141509492 85 N>S No Ensembl
rs1340281106 86 N>H No TOPMed
rs2141509482 86 N>S No Ensembl
rs2141509469 87 T>I No Ensembl
rs2141509469 87 T>N No Ensembl
rs2141509469 87 T>S No Ensembl
rs397517038
RCV000038262
CA135561
 88 K>missing No ClinGen
ClinVar
dbSNP
COSM6136516
COSM6136517
 88 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs953088090 88 K>E No Ensembl
rs2141509443 88 K>I No Ensembl
rs370920665 88 K>N No ESP
ExAC
TOPMed
gnomAD
rs2141509407 89 S>* No Ensembl
rs2141509407 89 S>L No Ensembl
rs2141509393 90 F>I No Ensembl
TCGA novel
rs2141509387
 90 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2141509390 90 F>Y No Ensembl
rs2141509373 91 E>D No Ensembl
rs2141509380 91 E>Q No Ensembl
rs2141509346 92 D>E No Ensembl
rs1437657227 92 D>H No Ensembl
rs1437657227 92 D>N No Ensembl
COSM3811715
rs1437657227
COSM557
 92 D>Y Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2141509341 93 I>F No Ensembl
rs2141509336 93 I>N No Ensembl
rs2141509321 94 H>D No Ensembl
rs2141509306 94 H>L No Ensembl
rs2141509296 94 H>Q No Ensembl
rs2141509306 94 H>R No Ensembl
rs1309399018 95 H>D No gnomAD
rs1309399018 95 H>N No gnomAD
rs2141509277 95 H>Q No Ensembl
rs1309399018
TCGA novel
 95 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2141509251 96 Y>* No Ensembl
rs2141509259 96 Y>H No Ensembl
rs2141509259 96 Y>N No Ensembl
rs2141509245 97 R>G No Ensembl
rs727503106 97 R>I No Ensembl
rs2141506565 97 R>S No Ensembl
rs727503106 97 R>T No Ensembl
COSM288668 98 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2141506561 98 E>D No Ensembl
rs2141506551 99 Q>* No Ensembl
rs2141506551 99 Q>E No Ensembl
TCGA novel 99 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2141506533 100 I>M No Ensembl
rs2141506536 100 I>N No Ensembl
rs2141506536 100 I>T No Ensembl
rs2141506530 101 K>* No Ensembl
rs2141506524 101 K>I No Ensembl
rs2141506509 102 R>G No Ensembl
rs2141506503 102 R>K No Ensembl
rs2141506494 102 R>S No Ensembl
rs2141506486 103 V>D No Ensembl
rs2141506470 104 K>* No Ensembl
rs2141506470 104 K>E No Ensembl
rs2141506465 104 K>M No Ensembl
rs1208266431 104 K>N No gnomAD
rs2141506470 104 K>Q No Ensembl
rs2141506431 105 D>E No Ensembl
rs2141506445 105 D>H No Ensembl
rs2141506445 105 D>N No Ensembl
rs2141506437 105 D>V No Ensembl
rs2141506445 105 D>Y No Ensembl
rs2141506420 106 S>P No Ensembl
rs2141506420 106 S>T No Ensembl
rs2141506389 107 E>D No Ensembl
rs1951384902 107 E>G No gnomAD
rs2141506402 107 E>K No Ensembl
rs2141506402 107 E>Q No Ensembl
rs763553461 108 D>H No ExAC
gnomAD
rs763553461 108 D>N No ExAC
gnomAD
rs2141506379 108 D>V No Ensembl
rs2141506367 109 V>E No Ensembl
rs2141506370 109 V>I No Ensembl
rs2141506370 109 V>L No Ensembl
rs2141506351 110 P>A No Ensembl
rs2141506351
COSM1586382
COSM938159
 110 P>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2141506320 111 M>I No Ensembl
rs1951384675 111 M>K No Ensembl
rs1951384733 111 M>L No TOPMed
rs1951384733 111 M>V No TOPMed
rs775836436 112 V>I No ExAC
gnomAD
rs775836436 112 V>L No ExAC
gnomAD
rs2141506302 113 L>Q No Ensembl
rs2141506292 114 V>E No Ensembl
rs2141506296 114 V>I No Ensembl
rs2141506296 114 V>L No Ensembl
rs2141506270 115 G>A No Ensembl
rs2141506270 115 G>E No Ensembl
rs2141506277 115 G>R No Ensembl
rs2141506270 115 G>V No Ensembl
rs2141506264
RCV001590499
 116 N>H No ClinVar
Ensembl
dbSNP
rs2141506254 116 N>K No Ensembl
rs202247812 116 N>T No Ensembl
rs2141506243 117 K>* No Ensembl
rs2141506243
COSM1360831
COSM1360830
 117 K>E large_intestine [Cosmic] No cosmic curated
Ensembl
rs2141506236 117 K>I No Ensembl
COSM4696722
COSM4696721
 117 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2141506205 118 C>* No Ensembl
rs1951384421 118 C>F No TOPMed
rs1951384421
COSM692703
COSM1146991
 118 C>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1951384421 118 C>Y No TOPMed
rs1951384352 119 D>E No TOPMed
rs730880471
TCGA novel
 119 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2141506192 119 D>V No Ensembl
rs2141506171 120 L>* No Ensembl
rs2141506164 120 L>F No Ensembl
rs2141506181 120 L>M No Ensembl
rs2141506158 121 P>A No Ensembl
rs2141506147 121 P>H No Ensembl
rs2141506147 121 P>L No Ensembl
rs2141506147 121 P>R No Ensembl
rs2141506158 121 P>S No Ensembl
rs2141506158 121 P>T No Ensembl
rs2141506126 122 S>C No Ensembl
rs2141506126 122 S>F No Ensembl
rs2141506136 122 S>T No Ensembl
rs2141506126 122 S>Y No Ensembl
rs2141506118 123 R>* No Ensembl
rs1951384303 123 R>I No Ensembl
rs1951384303 123 R>K No Ensembl
rs2141506105 123 R>S No Ensembl
rs1951384303 123 R>T No Ensembl
rs575569675 124 T>A No 1000Genomes
ExAC
gnomAD
rs1555193856
RCV000524037
CA384151366
 124 T>I No ClinGen
ClinVar
Ensembl
dbSNP
rs575569675 124 T>P No 1000Genomes
ExAC
gnomAD
rs1555193856 124 T>R No Ensembl
rs575569675 124 T>S No 1000Genomes
ExAC
gnomAD
rs2141506065 125 V>A No Ensembl
rs2141506065 125 V>E No Ensembl
rs2141506073 125 V>I No Ensembl
rs2141506073 125 V>L No Ensembl
rs1300504131 126 D>E No gnomAD
rs1363431968 126 D>H No gnomAD
rs1363431968 126 D>N No gnomAD
rs2141506045 126 D>V No Ensembl
rs1363431968 126 D>Y No gnomAD
rs781634879 127 T>R No ExAC
gnomAD
rs2141506032 127 T>S No Ensembl
rs746609817 128 K>I No ExAC
gnomAD
rs2141506000 128 K>N No Ensembl
rs746609817 128 K>R No ExAC
gnomAD
rs2141505995 129 Q>* No Ensembl
rs2141505982 129 Q>H No Ensembl
rs2141505990 129 Q>R No Ensembl
rs730880473 130 A>D No ExAC
TOPMed
gnomAD
rs730880473 130 A>G No ExAC
TOPMed
gnomAD
rs1463850736 130 A>P No TOPMed
gnomAD
rs1463850736 130 A>S No TOPMed
gnomAD
rs1463850736 130 A>T No TOPMed
gnomAD
rs2141505931 131 Q>* No Ensembl
rs2141505931 131 Q>E No Ensembl
rs2141505910 131 Q>H No Ensembl
rs1951383665 131 Q>L No TOPMed
rs1951383665 131 Q>R No TOPMed
rs2141505889 132 D>A No Ensembl
rs2141505878 132 D>E No Ensembl
rs2141505902 132 D>H No Ensembl
rs2141505902 132 D>N No Ensembl
rs2141505889 132 D>V No Ensembl
rs2141505858 133 L>* No Ensembl
rs2141505866 133 L>I No Ensembl
rs373500216
RCV002224430
 134 A>G No ClinVar
ESP
TOPMed
dbSNP
rs1565884227 134 A>P No Ensembl
rs1565884227 134 A>S No Ensembl
RCV000780370
rs1565884227
 134 A>T No ClinVar
Ensembl
dbSNP
rs373500216 134 A>V No ESP
TOPMed
rs2141505814 135 R>* No Ensembl
rs1951383559 135 R>K No Ensembl
COSM4040967
COSM4040968
rs1951383559
 135 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs757816355 136 S>I No ExAC
TOPMed
gnomAD
rs2141505781 136 S>R No Ensembl
rs757816355 136 S>T No ExAC
TOPMed
gnomAD
rs752731198 137 Y>* No ExAC
TOPMed
gnomAD
rs2141505766 137 Y>F No Ensembl
rs2141505773 137 Y>H No Ensembl
rs754870563 138 G>A No ExAC
gnomAD
rs754870563 138 G>E No ExAC
gnomAD
rs778702415 138 G>R No ExAC
gnomAD
rs754870563 138 G>V No ExAC
gnomAD
rs2141505727 140 P>A No Ensembl
rs2141505721 140 P>H No Ensembl
rs2141505721 140 P>L No Ensembl
rs2141505721 140 P>R No Ensembl
rs2141505727 140 P>S No Ensembl
rs2141505727 140 P>T No Ensembl
rs2141505704 141 F>I No Ensembl
rs138669124 141 F>L No ESP
ExAC
TOPMed
gnomAD
rs2141505698 141 F>Y No Ensembl
rs1344202459 142 I>T No gnomAD
rs2141505672 143 E>* No Ensembl
rs2141505650 143 E>D No Ensembl
rs2141505655 143 E>G No Ensembl
rs2141505672 143 E>K No Ensembl
rs2141505672 143 E>Q No Ensembl
rs2141505655 143 E>V No Ensembl
rs2141505644 144 T>A No Ensembl
rs2141505638 144 T>I No Ensembl
rs2141505638 144 T>R No Ensembl
rs2141505644 144 T>S No Ensembl
rs2141505617 145 S>* No Ensembl
rs2141505617 145 S>L No Ensembl
rs2141505627 145 S>T No Ensembl
rs1057519725 146 A>E No TOPMed
gnomAD
rs1057519725
COSM1360828
COSM1360829
 146 A>G large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs2141505570
COSM124019
COSM1579118
 147 K>N upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs2141505559 148 T>R No Ensembl
rs2141505566 148 T>S No Ensembl
rs2141505546 149 R>K No Ensembl
rs1951382657 149 R>S No TOPMed
gnomAD
rs2141505546 149 R>T No Ensembl
rs2141505533 150 Q>* No Ensembl
rs2141505533 150 Q>E No Ensembl
rs2141505516 150 Q>H No Ensembl
rs2141505520 150 Q>L No Ensembl
rs2141505520 150 Q>R No Ensembl
rs2141489249 151 R>* No Ensembl
rs2141489235 151 R>K No Ensembl
rs2141489227 151 R>S No Ensembl
rs2141489235 151 R>T No Ensembl
rs2141489206 152 V>A No Ensembl
rs2141489206 152 V>E No Ensembl
rs2141489206 152 V>G No Ensembl
rs2141489216 152 V>M No Ensembl
rs2141489198 153 E>K No Ensembl
rs2141489198 153 E>Q No Ensembl
rs989151052 154 D>G No TOPMed
gnomAD
rs1951245883 154 D>H No TOPMed
gnomAD
rs1951245883 154 D>N No TOPMed
gnomAD
rs989151052 154 D>V No TOPMed
gnomAD
rs1951245883 154 D>Y No TOPMed
gnomAD
rs2141489155
COSM1360824
 155 A>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2141489155 155 A>G No Ensembl
rs1951245764 155 A>T No TOPMed
gnomAD
rs2141489155 155 A>V No Ensembl
rs2141489148 156 F>L No Ensembl
rs2141489141 157 Y>H No Ensembl
COSM1579119 158 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749177256 158 T>I No ExAC
gnomAD
rs1265970615 158 T>P No TOPMed
gnomAD
rs749177256 158 T>R No ExAC
gnomAD
rs1265970615 158 T>S No TOPMed
gnomAD
rs2141489101 159 L>F No Ensembl
rs1951245377 159 L>S No Ensembl
rs539423712 160 V>A No gnomAD
rs755877953 160 V>L No ExAC
TOPMed
gnomAD
RCV000590191
CA6486862
rs755877953
RCV002287427
 160 V>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs4362222 161 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1951245193 162 E>D No Ensembl
rs2141489046 163 I>M No Ensembl
rs2141489060 163 I>N No Ensembl
rs2141489060 163 I>S No Ensembl
rs1951244924 163 I>V No Ensembl
rs200186819 164 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs200186819 164 R>G No ExAC
gnomAD
rs758575947 164 R>L No ExAC
TOPMed
gnomAD
rs758575947 164 R>P No ExAC
TOPMed
gnomAD
COSM1586383
rs758575947
RCV003393939
RCV001269107
 164 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs752732542 165 Q>* No ExAC
gnomAD
rs752732542 165 Q>E No ExAC
gnomAD
rs2141489008 165 Q>H No Ensembl
rs368557003 165 Q>R No ESP
TOPMed
gnomAD
rs2141488992 166 Y>* No Ensembl
RCV000039809
CA138586
RCV000680289
rs397517476
 166 Y>N No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2141488987 167 R>G No Ensembl
rs2141488979 167 R>I No Ensembl
rs2141488979 167 R>T No Ensembl
rs777244909 168 L>* No ExAC
TOPMed
gnomAD
rs2141488961 168 L>F No Ensembl
rs1388539722 168 L>M No gnomAD
rs1388539722 168 L>V No gnomAD
rs2141488957 169 K>E No Ensembl
rs1191739287 170 K>E No gnomAD
rs2141488941 170 K>N No Ensembl
rs1565880662 170 K>T No Ensembl
rs766231905 171 I>M No ExAC
TOPMed
gnomAD
TCGA novel 171 I>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs772985440 172 S>C No ExAC
gnomAD
rs2141488902 172 S>I No Ensembl
rs2141488902 172 S>N No Ensembl
rs2141488892 172 S>R No Ensembl
rs2141488902 172 S>T No Ensembl
rs2141488887 173 K>R No Ensembl
rs771629239 174 E>* No ExAC
gnomAD
rs771629239 174 E>K No ExAC
gnomAD
rs771629239 174 E>Q No ExAC
gnomAD
rs1565880650 175 E>* No Ensembl
rs1555192913 175 E>D No Ensembl
rs1565880650 175 E>K No Ensembl
rs1565880650 175 E>Q No Ensembl
rs2141488842 176 K>M No Ensembl
rs1951243830 176 K>N No Ensembl
COSM938158 176 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2141488842 176 K>R No Ensembl
rs2141488831 177 T>S No Ensembl
rs2141488824 177 T>S No Ensembl
rs374681135 178 P>A No ESP
TOPMed
rs2141488797 178 P>L No Ensembl
rs2141488797 178 P>R No Ensembl
rs374681135 178 P>S No ESP
TOPMed
rs374681135 178 P>T No ESP
TOPMed
rs2141488777 179 G>A No Ensembl
rs200970347 179 G>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2141488777 179 G>D No Ensembl
rs200970347 179 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2141488777 179 G>V No Ensembl
rs2141488764 180 C>S No Ensembl
rs2141488757 180 C>S No Ensembl
rs2141488757 180 C>Y No Ensembl
rs2141488743 181 V>A No Ensembl
rs2141488743 181 V>E No Ensembl
rs2141488749 181 V>M No Ensembl
rs1024789250 182 K>E No Ensembl
rs529925358 183 I>V No 1000Genomes
ExAC
gnomAD
rs749267065 184 K>* No ExAC
gnomAD
rs2141488696 186 C>S No Ensembl
rs201967696 186 C>W No TOPMed
gnomAD
rs2141488696 186 C>Y No Ensembl
rs779951033 187 I>F No ExAC
gnomAD
rs1951243246 187 I>N No gnomAD
rs1951243246 187 I>T No gnomAD
rs1565880628 188 I>M No gnomAD
rs1951243078 189 M>I No TOPMed
CA138592
rs201170656
RCV001699189
RCV000039812
 189 M>L No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2141488642 190 M>L No Ensembl
rs2141488634 190 M>Y No Ensembl

9 associated diseases with P01116

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 607785]: Leukemia, juvenile myelomonocytic (JMML)

An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 609942]: Noonan syndrome 3 (NS3)

A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613659]: Gastric cancer (GASC)

A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 615278]: Cardiofaciocutaneous syndrome 2 (CFC2)

A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 600268]: Oculoectodermal syndrome (OES)

A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 163200]: Schimmelpenning-Feuerstein-Mims syndrome (SFM)

A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older. . Note=The disease is caused by variants affecting the gene represented in this entry.
  • A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. . Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for P01116

Type Name Position InterPro Accession
domain Protein kinase domain 92 - 354 IPR000719
domain AGC-kinase, C-terminal 357 - 425 IPR000961
domain Pleckstrin homology domain 1150 - 1351 IPR001849
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 1260 - 1315 IPR002219
active_site Serine/threonine-protein kinase, active site 210 - 222 IPR008271
domain HR1 rho-binding domain 497 - 573 IPR011072
domain ROCK, Rho binding domain 978 - 1047 IPR015008
binding_site Protein kinase, ATP binding site 98 - 121 IPR017441
domain Rho-associated protein kinase 2, catalytic domain 39 - 417 IPR029878
domain Rho-associated protein kinase 2, HR1 domain 505 - 571 IPR037311

Functions

Description
EC Number 3.6.5.2 Acting on GTP; involved in cellular and subcellular movement
Subcellular Localization
  • Cell membrane ; Lipid-anchor ; Cytoplasmic side
  • Endomembrane system
  • Cytoplasm, cytosol
  • ;
PANTHER Family PTHR24070 RAS, DI-RAS, AND RHEB FAMILY MEMBERS OF SMALL GTPASE SUPERFAMILY
PANTHER Subfamily PTHR24070:SF388 GTPASE KRAS
PANTHER Protein Class small GTPase
G-protein
PANTHER Pathway Category TGF-beta signaling pathway
Ras-GDP
FGF signaling pathway
Ras
TGF-beta signaling pathway
Ras-GTP
PDGF signaling pathway
Ras
EGF receptor signaling pathway
Ras
Angiogenesis
Ras
Inflammation mediated by chemokine and cytokine signaling pathway
Ras
Ras Pathway
Ras
PI3 kinase pathway
Ras
p53 pathway feedback loops 2
Ras
Integrin signalling pathway
Ras
VEGF signaling pathway
Ras

9 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic side of plasma membrane The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name Definition
G protein activity A molecular function regulator that cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular processes. Intrinsic GTPase activity returns the G protein to its GDP-bound state. The return to the GDP-bound state can be accelerated by the action of a GTPase-activating protein (GAP).
GDP binding Binding to GDP, guanosine 5'-diphosphate.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction
identical protein binding Binding to an identical protein or proteins.
protein-containing complex binding Binding to a macromolecular complex.
protein-membrane adaptor activity The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle.

22 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
epithelial tube branching involved in lung morphogenesis The process in which a highly ordered sequence of patterning events generates the branched epithelial tubes of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.
forebrain astrocyte development The process aimed at the progression of an astrocyte that resides in the forebrain, from initial commitment of the cell to its fate, to the fully functional differentiated cell. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function.
gene expression The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
glial cell proliferation The multiplication or reproduction of glial cells by cell division, resulting in the expansion of their population. Glial cells exist throughout the nervous system, and include Schwann cells, astrocytes, and oligodendrocytes among others.
homeostasis of number of cells within a tissue Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers
negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation.
negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
neuron apoptotic process Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of glial cell proliferation Any process that activates or increases the rate or extent of glial cell proliferation.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of Rac protein signal transduction Any process that activates or increases the frequency, rate or extent of Rac protein signal transduction.
Rac protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Rac family of proteins switching to a GTP-bound active state.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of long-term neuronal synaptic plasticity A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
regulation of synaptic transmission, GABAergic Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA).
skeletal muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle.
striated muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle.
type I pneumocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a type I pneumocyte. A type I pneumocyte is a flattened cell with greatly attenuated cytoplasm and a paucity of organelles.
visual learning Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P08642 HRAS GTPase HRas Gallus gallus (Chicken) SS
Q6T310 RASL11A Ras-like protein family member 11A Homo sapiens (Human) PR
Q8IYK8 REM2 GTP-binding protein REM 2 Homo sapiens (Human) PR
P55040 GEM GTP-binding protein GEM Homo sapiens (Human) PR
Q6IQ22 RAB12 Ras-related protein Rab-12 Homo sapiens (Human) PR
Q9BU20 CPLANE2 Ciliogenesis and planar polarity effector 2 Homo sapiens (Human) PR
Q96HU8 DIRAS2 GTP-binding protein Di-Ras2 Homo sapiens (Human) PR
P62070 RRAS2 Ras-related protein R-Ras2 Homo sapiens (Human) PR
P11234 RALB Ras-related protein Ral-B Homo sapiens (Human) PR
P11233 RALA Ras-related protein Ral-A Homo sapiens (Human) PR
Q99578 RIT2 GTP-binding protein Rit2 Homo sapiens (Human) PR
P01112 HRAS GTPase HRas Homo sapiens (Human) SS
Q9JIW9 Ralb Ras-related protein Ral-B Mus musculus (Mouse) PR
Q61411 Hras GTPase HRas Mus musculus (Mouse) SS
O08989 Mras Ras-related protein M-Ras Mus musculus (Mouse) PR
Q5PR73 Diras2 GTP-binding protein Di-Ras2 Mus musculus (Mouse) PR
Q91Z61 Diras1 GTP-binding protein Di-Ras1 Mus musculus (Mouse) PR
P62071 Rras2 Ras-related protein R-Ras2 Mus musculus (Mouse) PR
P35283 Rab12 Ras-related protein Rab-12 Mus musculus (Mouse) PR
Q08AT1 Rasl12 Ras-like protein family member 12 Mus musculus (Mouse) PR
A2A825 Cplane2 Ciliogenesis and planar polarity effector 2 Mus musculus (Mouse) PR
P55041 Gem GTP-binding protein GEM Mus musculus (Mouse) PR
P70425 Rit2 GTP-binding protein Rit2 Mus musculus (Mouse) PR
Q8VEL9 Rem2 GTP-binding protein REM 2 Mus musculus (Mouse) PR
P32883 Kras GTPase KRas Mus musculus (Mouse) SS
P36860 Ralb Ras-related protein Ral-B Rattus norvegicus (Rat) PR
Q9WTY2 Rem2 GTP-binding protein REM 2 Rattus norvegicus (Rat) PR
P20171 Hras GTPase HRas Rattus norvegicus (Rat) SS
Q5BJQ5 Rit2 GTP-binding protein Rit2 Rattus norvegicus (Rat) PR
P97538 Mras Ras-related protein M-Ras Rattus norvegicus (Rat) PR
P08644 Kras GTPase KRas Rattus norvegicus (Rat) SS
B7ZTR0 cplane2 Ciliogenesis and planar polarity effector 2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
P79737 nras GTPase NRas Danio rerio (Zebrafish) (Brachydanio rerio) SS
A1DZY4 zgc:110179 Ras-like protein family member 11A-like Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MTEYKLVVVG AGGVGKSALT IQLIQNHFVD EYDPTIEDSY RKQVVIDGET CLLDILDTAG
70 80 90 100 110 120
QEEYSAMRDQ YMRTGEGFLC VFAINNTKSF EDIHHYREQI KRVKDSEDVP MVLVGNKCDL
130 140 150 160 170 180
PSRTVDTKQA QDLARSYGIP FIETSAKTRQ RVEDAFYTLV REIRQYRLKK ISKEEKTPGC
VKIKKCIIM